Exon 3, which contains the entire coding region, was targeted using CRISPR/Cas9 technology, resulting in a 4033 bp shorter gene sequence (4034 bp deletion, 1 bp insertion). (J:292806)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count